Varaico: Literature-Extracted Genetic Variants

Gene:CEP350
Variant:p.P741S

CEP350

187 papers

RefSeq Summary

The product of this gene is a large protein with a CAP-Gly domain typically found in cytoskeleton-associated proteins. The encoded protein primarily localizes to the centrosome, a non-membraneous orga...

Pfam Domains

CAP_GLYaa 2499–2563UCSCCAP-Gly domain
DUF4378aa 2922–3099UCSCDomain of unknown function (DUF4378)

Gene Aliases

HGNC Name

centrosomal protein 350

HGNC Alias Symbols

KIAA0480; CAP350

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_014810.5
p.P741S
c.2221C>T
Surrounding Variants
1 paper
NM_014810.5
p.M734R
c.2201T>G
1 paper
NM_014810.5
p.D727N
c.2179G>A
1 paper
NM_014810.5
p.L762_L763delFs
c.2286_2287delCT
1 paper
NM_014810.5
p.L771V
c.2311T>G
1 paper
NM_014810.5
p.S789L
c.2366C>T
1 paper
NM_014810.5
p.R790T
c.2369G>C
1 paper
NM_014810.5
p.S802L
c.2405C>T
1 paper
NM_014810.5
p.A815V
c.2444C>T
1 paper
NM_014810.5
p.Y818C
c.2453A>G
1 paper
NM_014810.5
p.K845T
c.2534A>C
1 paper
NM_014810.5
p.G854delFs
c.2561_2562delGG
1 paper
NM_014810.5
p.T859S
c.2575A>T
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